Variant report

Variant	nsv976127
Chromosome Location	chr13:64407800-64424929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:672)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:64409212-64409411	IMR90	lung:	n/a	chr13:64409350-64409361
2	CEBPB	chr13:64409209-64409369	HepG2	liver:	n/a	chr13:64409350-64409361
3	CEBPB	chr13:64422818-64422949	HepG2	liver:	n/a	n/a
4	CEBPB	chr13:64409210-64409420	A549	lung:	n/a	chr13:64409350-64409361
5	CTCF	chr13:64424253-64424277	LNCaP	prostate:	n/a	n/a
6	CTCF	chr13:64424268-64424335	LNCaP	prostate:	n/a	n/a
7	CTCF	chr13:64424244-64424338	MCF-7	breast:	n/a	n/a
8	CTCF	chr13:64415903-64415950	LNCaP	prostate:	n/a	n/a
9	CTCF	chr13:64420959-64421041	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr13:64424222-64424277	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr13:64424240-64424295	MCF-7	breast:	n/a	n/a
12	CTCF	chr13:64408429-64408453	H1-hESC	embryonic stem cell:	n/a	n/a
13	EBF1	chr13:64421431-64421662	GM12878	blood:	n/a	chr13:64421508-64421519
14	FOSL2	chr13:64417627-64417853	HepG2	liver:	n/a	n/a
15	HEY1	chr13:64414266-64414409	HepG2	liver:	n/a	n/a
16	PBX3	chr13:64410419-64410892	GM12878	blood:	n/a	n/a
17	PBX3	chr13:64410235-64410418	GM12878	blood:	n/a	n/a
18	PBX3	chr13:64408632-64409219	GM12878	blood:	n/a	n/a
19	PBX3	chr13:64409366-64410164	GM12878	blood:	n/a	n/a
20	POU2F2	chr13:64409712-64409918	GM12878	blood:	n/a	n/a
21	SP1	chr13:64409583-64409848	GM12878	blood:	n/a	n/a
22	SP1	chr13:64414150-64414428	HepG2	liver:	n/a	n/a
23	TCF3	chr13:64410547-64410965	GM12878	blood:	n/a	n/a
24	TCF3	chr13:64409348-64410534	GM12878	blood:	n/a	n/a
25	TCF3	chr13:64408562-64409103	GM12878	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:64408172-64408222	AG09319	gingival:	n/a
2	chr13:64408172-64408222	AG09319	gingival:	n/a
3	chr13:64416816-64416866	AG04450	lung:	fetal
4	chr13:64408172-64408222	HEK293	kidney:	embryo
5	chr13:64418279-64418329	GM12878	blood:	n/a
6	chr13:64421835-64421885	AG09309	skin:	n/a
7	chr13:64418678-64418728	NB4	blood:	n/a
8	chr13:64418676-64418726	HCF	heart:	n/a
9	chr13:64418279-64418329	HAEpiC	amniotic membrane:	n/a
10	chr13:64416816-64416866	HL-60	blood:	n/a
11	chr13:64416816-64416866	Hela-S3	cervix:	n/a
12	chr13:64418337-64418387	BE2_C	brain:	n/a
13	chr13:64418676-64418726	RPTEC	kidney:	n/a
14	chr13:64412172-64412222	H1-hESC	embryonic stem cell:	embryo
15	chr13:64418676-64418726	Caco-2	colon:	n/a
16	chr13:64416816-64416866	HCM	heart:	n/a
17	chr13:64421835-64421885	ProgFib	skin:	n/a
18	chr13:64412172-64412222	HepG2	liver:	n/a
19	chr13:64411884-64411934	Hepatocyte	liver:	n/a
20	chr13:64408172-64408222	HAEpiC	amniotic membrane:	n/a
21	chr13:64418345-64418395	NB4	blood:	n/a
22	chr13:64415303-64415353	HIPEpiC	eye:	n/a
23	chr13:64418337-64418387	LNCaP	prostate:	n/a
24	chr13:64418676-64418726	A549	lung:	n/a
25	chr13:64418279-64418329	HNPCEpiC	eye:	n/a
26	chr13:64418279-64418329	Hepatocyte	liver:	n/a
27	chr13:64418337-64418387	PFSK-1	brain:	n/a
28	chr13:64418337-64418387	HRCEpiC	kidney:	n/a
29	chr13:64415303-64415353	K562	blood:	n/a
30	chr13:64418337-64418387	H1-hESC	embryonic stem cell:	embryo
31	chr13:64418676-64418726	HCPEpiC	choroid plexus:	n/a
32	chr13:64411884-64411934	PANC-1	pancreas:	n/a
33	chr13:64416816-64416866	AG10803	skin:	n/a
34	chr13:64421835-64421885	MCF-7	breast:	n/a
35	chr13:64408172-64408222	SKMC	muscle:	n/a
36	chr13:64418678-64418728	Hepatocyte	liver:	n/a
37	chr13:64415303-64415353	SKMC	muscle:	n/a
38	chr13:64416816-64416866	T-47D	breast:	n/a
39	chr13:64421835-64421885	BE2_C	brain:	n/a
40	chr13:64408172-64408222	ProgFib	skin:	n/a
41	chr13:64408172-64408222	HIPEpiC	eye:	n/a
42	chr13:64421835-64421885	T-47D	breast:	n/a
43	chr13:64418345-64418395	ECC-1	luminal epithelium:	n/a
44	chr13:64411884-64411934	GM19239	blood:	n/a
45	chr13:64418337-64418387	HIPEpiC	eye:	n/a
46	chr13:64418678-64418728	HCM	heart:	n/a
47	chr13:64418678-64418728	Caco-2	colon:	n/a
48	chr13:64412172-64412222	BJ	skin:	n/a
49	chr13:64418676-64418726	HCT-116	colon:	n/a
50	chr13:64411884-64411934	U87	brain:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-10	chr13:64411124-64411575	NONHSAT034185
2	lnc-PCDH20-10	chr13:64412250-64412371	NONHSAT034187
3	lnc-AL445989.1-21	chr13:64411166-64411589	NONHSAT034186
4	lnc-PCDH20-10	chr13:64413203-64413330	NONHSAT034187
5	lnc-PCDH20-10	chr13:64412293-64412877	NONHSAT034185
6	lnc-PCDH20-10	chr13:64413882-64414219	NONHSAT034181

No data

Variant related genes	Relation type
ENSG00000272299	TF binding region
ENSG00000219926	TF binding region
OR7E104P	TF binding region
ENSG00000272299	CpG island
ENSG00000219926	CpG island
OR7E104P	CpG island

Extended variants
information (count: 832 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:832 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2810818	chr13:64408172-64408173	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
2	rs552263829	chr13:64408173-64408174	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
3	rs557187301	chr13:64408183-64408184	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs575259909	chr13:64408203-64408204	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
5	rs538822420	chr13:64408573-64408574	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs557250512	chr13:64408620-64408621	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs367825785	chr13:64408638-64408639	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs370197708	chr13:64408700-64408701	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs192112153	chr13:64408725-64408726	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs536276021	chr13:64408766-64408767	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs557232667	chr13:64408775-64408776	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs142677496	chr13:64408784-64408785	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs540729007	chr13:64408787-64408788	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs147119047	chr13:64408788-64408789	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs577133436	chr13:64408790-64408791	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs112251030	chr13:64408820-64408821	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs202141340	chr13:64408824-64408825	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs544387160	chr13:64408826-64408827	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs559509808	chr13:64408832-64408833	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs148153883	chr13:64408833-64408834	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs541493121	chr13:64408837-64408838	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs561705920	chr13:64408882-64408883	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs530014560	chr13:64408883-64408884	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs541503370	chr13:64408891-64408892	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs3866527	chr13:64408896-64408897	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs139882210	chr13:64408921-64408922	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs552274208	chr13:64408931-64408932	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs530375133	chr13:64408933-64408934	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs1813921	chr13:64408963-64408964	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs570181685	chr13:64408988-64408989	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs532605928	chr13:64409032-64409033	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs550737039	chr13:64409035-64409036	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs569254117	chr13:64409081-64409082	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs536940035	chr13:64409105-64409106	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs548557834	chr13:64409122-64409123	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs566861733	chr13:64409125-64409126	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs533912599	chr13:64409158-64409159	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs559110501	chr13:64409170-64409171	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs375102662	chr13:64409180-64409181	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs538085920	chr13:64409191-64409192	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs556385343	chr13:64409199-64409200	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs574508479	chr13:64409221-64409222	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs542112967	chr13:64409228-64409229	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs550053827	chr13:64409230-64409231	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs572025541	chr13:64409231-64409232	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs545469821	chr13:64409239-64409240	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs563864319	chr13:64409256-64409257	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs139531814	chr13:64409275-64409276	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs144188142	chr13:64409284-64409285	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs562754043	chr13:64409293-64409294	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64415000-64415200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:64415000-64415600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:64415000-64415600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:64415200-64415400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:64415200-64415600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:64415600-64418200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:64415600-64419000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:64418200-64418600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:64418600-64420400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:64422200-64423000	Enhancers	Fetal Lung	lung
11	chr13:64422400-64423200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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